Pirastu M, Saglio G, Chang J C, Cao A, Kan Y W
J Biol Chem. 1984 Oct 25;259(20):12315-7.
Cloning and sequence analysis of the alpha-globin genes from a Sardinian patient with the nondeletion type of hemoglobin-H disease revealed a new type of thalassemia lesion. A mutation in the alpha 2-globin gene changes the initiation codon ATG to ACG and abolishes the function of this gene. Globin mRNA output from the affected alpha 2 locus is decreased relative to the alpha 1 locus. The mutation is detectable in genomic DNA by restriction analysis with the enzyme NcoI. Of the seven Sardinian patients with nondeletion alpha thalassemia screened with this enzyme, six had the initiation codon lesion.
对一名患有非缺失型血红蛋白H病的撒丁岛患者的α珠蛋白基因进行克隆和序列分析，发现了一种新型的地中海贫血病变。α2珠蛋白基因中的一个突变将起始密码子ATG变为ACG，使该基因功能丧失。相对于α1基因座，受影响的α2基因座的珠蛋白mRNA产量降低。通过用NcoI酶进行限制性分析，可在基因组DNA中检测到该突变。在用这种酶筛查的7名撒丁岛非缺失型α地中海贫血患者中，有6人存在起始密码子病变。
